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Review of pharmacogenomics of psychiatric comorbidities in autism spectrum disorder. 孤独症谱系障碍中精神合并症的药物基因组学研究进展。
IF 2.1 4区 医学
Pharmacogenomics Pub Date : 2023-09-01 Epub Date: 2023-09-28 DOI: 10.2217/pgs-2023-0134
Aida Alvarez, Valentin Bote, Cristina Lamborena, Raquel Medina, Alexandre Serra-LLovich, Amaia Hervas, Maria J Arranz
{"title":"Review of pharmacogenomics of psychiatric comorbidities in autism spectrum disorder.","authors":"Aida Alvarez,&nbsp;Valentin Bote,&nbsp;Cristina Lamborena,&nbsp;Raquel Medina,&nbsp;Alexandre Serra-LLovich,&nbsp;Amaia Hervas,&nbsp;Maria J Arranz","doi":"10.2217/pgs-2023-0134","DOIUrl":"10.2217/pgs-2023-0134","url":null,"abstract":"<p><p>Approximately 70% of individuals diagnosed with autism spectrum disorder (ASD) receive at least one psychotropic medication to treat comorbidities. However, the response to treatment with these drugs is far from satisfactory, with 30-50% of treated patients not responding adequately or developing severe and long-lasting side effects. There is strong evidence of the clinical utility of pharmacogenetics for the personalization of antipsychotic and antidepressant treatments in adult populations. However, the use of pharmacogenetic interventions for the personalization of treatment in ASD populations is minimal. The aim of this review is to summarize the findings of pharmacogenetic studies conducted in subjects with ASD and illustrate their utility in the personalization of treatment with psychoactive drugs in this population group.</p>","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41145514","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Integrating pharmacogenomic testing into paired germline and somatic genomic testing in patients with cancer. 将药物基因组检测整合到癌症患者的配对种系和体细胞基因组检测中。
IF 2.1 4区 医学
Pharmacogenomics Pub Date : 2023-08-01 Epub Date: 2023-09-13 DOI: 10.2217/pgs-2023-0125
Nathan D Seligson, Jill M Kolesar, Benish Alam, Laura Baker, Jatinder K Lamba, Brooke L Fridley, Ameen A Salahudeen, Daniel L Hertz, J Kevin Hicks
{"title":"Integrating pharmacogenomic testing into paired germline and somatic genomic testing in patients with cancer.","authors":"Nathan D Seligson,&nbsp;Jill M Kolesar,&nbsp;Benish Alam,&nbsp;Laura Baker,&nbsp;Jatinder K Lamba,&nbsp;Brooke L Fridley,&nbsp;Ameen A Salahudeen,&nbsp;Daniel L Hertz,&nbsp;J Kevin Hicks","doi":"10.2217/pgs-2023-0125","DOIUrl":"10.2217/pgs-2023-0125","url":null,"abstract":"<p><p>Precision medicine has revolutionized clinical care for patients with cancer through the development of targeted therapy, identification of inherited cancer predisposition syndromes and the use of pharmacogenetics to optimize pharmacotherapy for anticancer drugs and supportive care medications. While germline (patient) and somatic (tumor) genomic testing have evolved separately, recent interest in paired germline/somatic testing has led to an increase in integrated genomic testing workflows. However, paired germline/somatic testing has generally lacked the incorporation of germline pharmacogenomics. Integrating pharmacogenomics into paired germline/somatic genomic testing would be an efficient method for increasing access to pharmacogenomic testing. In this perspective, the authors argue for the benefits of implementing a comprehensive approach integrating somatic and germline testing that is inclusive of pharmacogenomics in clinical practice.</p>","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10225242","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Effects of CYP3A4 and CYP2C9 genotype on systemic anastrozole and fulvestrant concentrations in SWOG S0226. CYP3A4和CYP2C9基因型对SWOG S0226中系统阿那曲唑和富维司琼浓度的影响。
IF 1.9 4区 医学
Pharmacogenomics Pub Date : 2023-08-01 Epub Date: 2023-08-24 DOI: 10.2217/pgs-2023-0097
Delaney V Rutherford, Sarah Medley, Nicholas C Henderson, Christina L Gersch, Ted A Vandenberg, Kathy S Albain, Shaker R Dakhil, Nagendra R Tirumali, Julie R Gralow, Gabriel N Hortobagyi, Lajos Pusztai, Rita S Mehta, Daniel F Hayes, Kelley M Kidwell, N Lynn Henry, William E Barlow, James M Rae, Daniel L Hertz
{"title":"Effects of <i>CYP3A4</i> and <i>CYP2C9</i> genotype on systemic anastrozole and fulvestrant concentrations in SWOG S0226.","authors":"Delaney V Rutherford, Sarah Medley, Nicholas C Henderson, Christina L Gersch, Ted A Vandenberg, Kathy S Albain, Shaker R Dakhil, Nagendra R Tirumali, Julie R Gralow, Gabriel N Hortobagyi, Lajos Pusztai, Rita S Mehta, Daniel F Hayes, Kelley M Kidwell, N Lynn Henry, William E Barlow, James M Rae, Daniel L Hertz","doi":"10.2217/pgs-2023-0097","DOIUrl":"10.2217/pgs-2023-0097","url":null,"abstract":"<p><p><b>Objective & methods:</b> This study tested associations of genotype-predicted activity of CYP3A4, other pharmacogenes, <i>SLC28A7</i> (rs11648166) and <i>ALPPL2</i> (rs28845026) with systemic concentrations of the endocrine therapies anastrozole and fulvestrant in SWOG S0226 trial participants. <b>Results:</b> Participants in the anastrozole-only arm with low CYP3A4 activity (i.e. <i>CYP3A4*22</i> carriers) had higher systemic anastrozole concentrations than patients with high CYP3A4 activity (β-coefficient = 10.03; 95% CI: 1.42, 18.6; p = 0.025). In an exploratory analysis, participants with low CYP2C9 activity had lower anastrozole concentrations and higher fulvestrant concentrations than participants with high CYP2C9 activity. <b>Conclusion:</b> Inherited genetic variation in <i>CYP3A4</i> and <i>CYP2C9</i> may affect concentrations of endocrine therapy and may be useful to personalize dosing and improve treatment outcomes.</p>","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10565537/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10303343","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Effect of OPRM1/COMT gene polymorphisms on sufentanil labor analgesia: a cohort study based on propensity score matching. OPRM1/COMT基因多态性对舒芬太尼分娩镇痛的影响：一项基于倾向评分匹配的队列研究。
IF 2.1 4区 医学
Pharmacogenomics Pub Date : 2023-08-01 Epub Date: 2023-08-23 DOI: 10.2217/pgs-2023-0103
Yao Chen, Quanyao Chen, Can Cai, Xiuxian Lin, Weiwei Yu, Huiqiong Huang, Wenmin Xie, Min Lin, Weida Chen, Hui Wu, Tingting Su, Lingsong Wang
{"title":"Effect of <i>OPRM1/COMT</i> gene polymorphisms on sufentanil labor analgesia: a cohort study based on propensity score matching.","authors":"Yao Chen, Quanyao Chen, Can Cai, Xiuxian Lin, Weiwei Yu, Huiqiong Huang, Wenmin Xie, Min Lin, Weida Chen, Hui Wu, Tingting Su, Lingsong Wang","doi":"10.2217/pgs-2023-0103","DOIUrl":"10.2217/pgs-2023-0103","url":null,"abstract":"<p><p><b>Background:</b> This study investigated the use of <i>COMT</i> G1947A and <i>OPRM1</i> A118G polymorphisms as predictive markers for sufentanil epidural analgesia. <b>Methods:</b> The visual analogue scale (VAS) score, and sufentanil consumption of 136 pairs of parturients using sufentanil with lidocaine and ropivacaine for epidural analgesia were used for analysis. <b>Results:</b> <i>OPRM1</i> AG/GG had lower VAS score difference between fifth and 0 min (1.55 vs 1.87; p = 0.012) and higher consumption (19.65 μg vs 17.11 μg; p = 0.049) than AA carriers. <i>COMT</i> GA/AA had higher VAS score difference than GG carriers (1.86 vs 1.55; p = 0.021). <b>Conclusion:</b> Sufentanil may provide better epidural labor analgesia in <i>OPRM1</i> AA and <i>COMT</i> GA/AA carriers compared with <i>OPRM1</i> AG/GG and <i>COMT</i> GG carriers. <b>Clinical Trial Registration</b>: ChiCTR1900026897 (Chinese Clinical Trial Center Registry).</p>","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10115360","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Interethnic differences in drug response: projected impact of genetic variations in the Saudi population. 药物反应的种族间差异：沙特人口基因变异的预测影响。
IF 2.1 4区 医学
Pharmacogenomics Pub Date : 2023-08-01 Epub Date: 2023-08-23 DOI: 10.2217/pgs-2023-0105
Abdullah Alsultan, Abdullah A Alalwan, Bashayer Alshehri, Majed Al Jeraisy, Jahad Alghamdi, Saeed Alqahtani, Ahmed A Albassam
{"title":"Interethnic differences in drug response: projected impact of genetic variations in the Saudi population.","authors":"Abdullah Alsultan,&nbsp;Abdullah A Alalwan,&nbsp;Bashayer Alshehri,&nbsp;Majed Al Jeraisy,&nbsp;Jahad Alghamdi,&nbsp;Saeed Alqahtani,&nbsp;Ahmed A Albassam","doi":"10.2217/pgs-2023-0105","DOIUrl":"10.2217/pgs-2023-0105","url":null,"abstract":"Ethnicity is known to have an impact on drug responses. This is particularly important for drugs that have a narrow therapeutic window, nonlinearity in pharmacokinetics and are metabolized by enzymes that demonstrate genetic polymorphisms. However, most clinical trials are conducted among Caucasians, which might limit the usefulness of the findings of such studies for other ethnicities. The representation of participants from Saudi Arabia in global clinical trials is low. Therefore, there is a paucity of evidence to assess the impact of ethnic variability in the Saudi population on drug response. In this article, the authors assess the projected impact of genetic polymorphisms in drug-metabolizing enzymes and drug targets on drug response in the Saudi population.","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10059854","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Identification of clinical and pharmacogenetic factors influencing metformin response in Type 2 diabetes mellitus. 影响二甲双胍治疗2型糖尿病疗效的临床和药物遗传学因素的鉴定。
IF 2.1 4区 医学
Pharmacogenomics Pub Date : 2023-08-01 Epub Date: 2023-08-23 DOI: 10.2217/pgs-2023-0109
Noelia Pérez-Gómez, María Dolores Fernández-Ortega, Miren Elizari-Roncal, Estefanía Santos-Mazo, Laura de la Maza-Pereg, Sara Calvo, Raquel Alcaraz, Antonio Sanz-Solas, Raquel Vinuesa, Miriam Saiz-Rodríguez
{"title":"Identification of clinical and pharmacogenetic factors influencing metformin response in Type 2 diabetes mellitus.","authors":"Noelia Pérez-Gómez,&nbsp;María Dolores Fernández-Ortega,&nbsp;Miren Elizari-Roncal,&nbsp;Estefanía Santos-Mazo,&nbsp;Laura de la Maza-Pereg,&nbsp;Sara Calvo,&nbsp;Raquel Alcaraz,&nbsp;Antonio Sanz-Solas,&nbsp;Raquel Vinuesa,&nbsp;Miriam Saiz-Rodríguez","doi":"10.2217/pgs-2023-0109","DOIUrl":"10.2217/pgs-2023-0109","url":null,"abstract":"<p><p>Metformin, a hypoglycemic drug for Type 2 diabetes mellitus, shows variability in pharmacokinetics and response due to membrane transporters. This study followed 34 Type 2 diabetes mellitus patients on metformin treatment. Genetic variants in 11 metformin transport-related genes were analyzed, revealing associations. Specifically, <i>SLC47A1</i> rs2289669 A/A and <i>SLC22A4</i> rs1050152 T/T genotypes correlated with glycated hemoglobin values at 6 months. <i>SLC47A1</i> rs2289669 G/A genotype influenced glucose levels at 6 months, while <i>SLC29A4</i> rs3889348 A/A, <i>SLC47A1</i> rs2289669 A/A, <i>SLC22A4</i> rs1050152 C/T and <i>SLC47A2</i> rs12943590 A/A genotypes were linked to glucose levels at 12 months. Additionally, <i>ABCB1</i> rs2032582 C/A and <i>ABCG2</i> rs2231137 C/T genotypes impacted cholesterol levels at 12 months. These findings shed light on metformin response determinants, offering insights for further research.</p>","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10115365","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
An alcohol dehydrogenase 7 gene polymorphism associates with both acute and chronic pain in sickle cell disease. 乙醇脱氢酶7基因多态性与镰状细胞病的急性和慢性疼痛相关。
IF 1.9 4区 医学
Pharmacogenomics Pub Date : 2023-08-01 Epub Date: 2023-09-15 DOI: 10.2217/pgs-2023-0084
Yavnika Kashyap, Ying He, Nilanjana Sadhu, Yingwei Yao, Diana J Wilkie, Robert E Molokie, Zaijie Jim Wang
{"title":"An alcohol dehydrogenase 7 gene polymorphism associates with both acute and chronic pain in sickle cell disease.","authors":"Yavnika Kashyap, Ying He, Nilanjana Sadhu, Yingwei Yao, Diana J Wilkie, Robert E Molokie, Zaijie Jim Wang","doi":"10.2217/pgs-2023-0084","DOIUrl":"10.2217/pgs-2023-0084","url":null,"abstract":"<p><p><b>Introduction:</b> As the most distressing complication of sickle cell disease (SCD), pain is marked by considerable heterogenicity. In this study we explored the potential association of alcohol dehydrogenase 7 gene (<i>ADH7</i>) polymorphism rs971074 with sickle cell pain. <b>Methods:</b> We analyzed clinical phenotypes and the rs971074 single-nucleotide polymorphism in <i>ADH7</i> by MassARRAY-iPlex analysis in a cohort of SCD patients. <b>Results:</b> The synonymous rs971074 was significantly associated with both acute and chronic pain in SCD. Patients with the minor T allele(s) recorded significantly more crisis episodes and severe chronic pain symptoms. <b>Conclusion:</b> Our study has identified the rs971074 minor T allele as a genetic biomarker potentially influencing acute and chronic pain. These findings may ultimately help inform strategies to develop precision pain therapies in SCD.</p>","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10621759/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10235363","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Influence of polymorphisms in CYP2C9, VKORC1, MDR1 and APOE genes on the warfarin maintenance dose in Brazilian patients. CYP2C9、VKORC1、MDR1和APOE基因多态性对巴西患者华法林维持剂量的影响。
IF 2.1 4区 医学
Pharmacogenomics Pub Date : 2023-08-01 Epub Date: 2023-09-13 DOI: 10.2217/pgs-2023-0099
Emílio Itamar de Freitas Campos, Karina Braga Gomes, Daniel Dias Ribeiro, Marja Kaarina Puurunen, Aline de Oliveira Magalhães Mourão, Isadora Gonçalves Ferreira, Manoel Otávio da Costa Rocha, Renan Pedra de Souza, Maria Auxiliadora Parreiras Martins
{"title":"Influence of polymorphisms in <i>CYP2C9</i>, <i>VKORC1</i>, <i>MDR1</i> and <i>APOE</i> genes on the warfarin maintenance dose in Brazilian patients.","authors":"Emílio Itamar de Freitas Campos,&nbsp;Karina Braga Gomes,&nbsp;Daniel Dias Ribeiro,&nbsp;Marja Kaarina Puurunen,&nbsp;Aline de Oliveira Magalhães Mourão,&nbsp;Isadora Gonçalves Ferreira,&nbsp;Manoel Otávio da Costa Rocha,&nbsp;Renan Pedra de Souza,&nbsp;Maria Auxiliadora Parreiras Martins","doi":"10.2217/pgs-2023-0099","DOIUrl":"10.2217/pgs-2023-0099","url":null,"abstract":"<p><p><b>Background:</b> Polymorphisms in the <i>CYP2C9</i>, <i>VKORC1</i>, <i>MDR1</i> and <i>APOE</i> genes may impact warfarin dose. <b>Aim:</b> To investigate the influence of sociodemographic, clinical factors and polymorphisms <i>*1</i>, <i>*2</i> and <i>*3</i> for <i>CYP2C9</i>, -1639G>A for <i>VKORC1</i>, 3435C>T for <i>MDR1</i>, and ϵ2, ϵ3 and ϵ4 for <i>APOE</i> genes on the mean weekly warfarin maintenance dose in adults. <b>Methods:</b> This cross-sectional study recruited a calculated sample of 315 patients in three anticoagulation clinics in Brazil. A model containing the variables significantly associated with warfarin dose was estimated. <b>Results:</b> The mean age of patients was 64.1 ± 13.1 years, with 173 (54.9%) women. Age, use of amiodarone, genotype <i>VKORC1</i> GA, genotype <i>VKORC1</i> AA, genotypes <i>CYP2C9*1/*2</i> or <i>*1/*3</i> and genotypes <i>CYP2C9*2/*2</i> or <i>*2/*3</i> or <i>*3/*3</i> were associated with a reduced warfarin dose. <b>Conclusion:</b> This study pointed out factors that could impact the management of oral anticoagulation.</p>","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10215327","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
The potential of exome sequencing of paired colorectal tumors and synchronous liver metastases to improve treatment. 配对结直肠肿瘤和同步肝转移的外显子组测序对改善治疗的潜力。
IF 2.1 4区 医学
Pharmacogenomics Pub Date : 2023-08-01 Epub Date: 2023-09-28 DOI: 10.2217/pgs-2023-0158
Viktor Hlaváč, Petr Holý, Pavel Souček
{"title":"The potential of exome sequencing of paired colorectal tumors and synchronous liver metastases to improve treatment.","authors":"Viktor Hlaváč,&nbsp;Petr Holý,&nbsp;Pavel Souček","doi":"10.2217/pgs-2023-0158","DOIUrl":"10.2217/pgs-2023-0158","url":null,"abstract":"<p><p>Tweetable abstract Sequencing exomes of synchronous and metachronous liver metastases of colorectal cancer has potential to enhance treatment, since they can have molecular profiles distinct from primary tumors.</p>","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41148405","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Cost-effectiveness of HLA-B*58:01 testing to prevent Stevens-Johnson syndrome/toxic epidermal necrolysis in Vietnam. HLA-B*58:01检测预防越南Stevens-Johnson综合征/中毒性表皮坏死松解症的成本效益。
IF 1.9 4区 医学
Pharmacogenomics Pub Date : 2023-08-01 Epub Date: 2023-09-14 DOI: 10.2217/pgs-2023-0095
Khanh Nc Duong, Dinh Van Nguyen, Nathorn Chaiyakunapruk, Richard E Nelson, Daniel C Malone
{"title":"Cost-effectiveness of <i>HLA-B*58:01</i> testing to prevent Stevens-Johnson syndrome/toxic epidermal necrolysis in Vietnam.","authors":"Khanh Nc Duong, Dinh Van Nguyen, Nathorn Chaiyakunapruk, Richard E Nelson, Daniel C Malone","doi":"10.2217/pgs-2023-0095","DOIUrl":"10.2217/pgs-2023-0095","url":null,"abstract":"<p><p><b>Background:</b> <i>HLA-B*58:01</i> is strongly associated with allopurinol-induced Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) in Vietnam. This study assessed the cost-effectiveness of this testing to prevent SJS/TEN. <b>Methods:</b> A model was developed to compare three strategies: no screening, use allopurinol; <i>HLA-B*58:01</i> screening; and no screening, use probenecid. A willingness-to-pay of three-times gross domestic product per capita was used. <b>Results:</b> Compared with 'no screening, use allopurinol', 'screening' increased quality-adjusted life-years by 0.0069 with the incremental cost of Vietnam dong (VND) 14,283,633 (US$617), yielding an incremental cost-effectiveness ratio of VND 2,070,459,122 (US$89,398) per quality-adjusted life-year. Therefore, 'screening' was unlikely to be cost-effective under the current willingness-to-pay. Testing's cost-effectiveness may change with targeted high-risk patients, reimbursed febuxostat or lower probenecid prices. <b>Conclusion:</b> The implementation of nationwide <i>HLAB*58:01</i> testing before the use of allopurinol is not cost-effective, according to this analysis. This may be due to the lack of quality data on the effectiveness of testing and costing data in the Vietnamese population.</p>","PeriodicalId":20018,"journal":{"name":"Pharmacogenomics","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10286718","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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